Publications by authors named "Nicolas Sevenet"

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Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
Edwige Kasper, Flavie Boulouard, Noémie Basset, Lisa Golmard, Hela Sassi, Nicolas Sevenet

Int J Cancer· September 2025

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Classification of germline non-truncating variants: a new approach to interpretation.
Henri Margot, Natalie Jones, Thibaut Matis, Dominique Bonneau, Tiffany Busa, Nicolas Sevenet

J Med Genet· November 2024

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Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
Mathias Cavaillé, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Nicolas Sevenet

BMC Med Genomics· July 2023

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Multiple basal cell carcinomas revealing a biallelic MUTYH gene mutation in a 39-year-old male patient.
Sofia Tzoumpa, Nicolas Sevenet, Claudia-Luisa Bejar-Ardiles, Béatrice Villette, Coralie Zumelzu

J Eur Acad Dermatol Venereol· March 2023

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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M Caputo, Nicolas Sevenet

Eur J Cancer· January 2023

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PTEN alterations in sporadic and BRCA1-associated triple negative breast carcinomas.
Natalie Jones, Audrey Gros, Valérie Velasco, Valérie Dapremont, Véronique Brouste, Nicolas Sevenet

Cancer Genet· June 2022

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Nicolas Sevenet

Am J Hum Genet· October 2021

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Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
Céline Callens, Dominique Vaur, Isabelle Soubeyran, Etienne Rouleau, Pierre-Alexandre Just, Nicolas Sevenet

J Natl Cancer Inst· July 2021

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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, Nicolas Sevenet

Cancers (Basel)· July 2021

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5' Region Large Genomic Rearrangements in the Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Sandrine M Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Nicolas Sevenet

Cancers (Basel)· June 2021

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Prostate cancer and PARP inhibitors: progress and challenges.
Diego Teyssonneau, Henri Margot, Mathilde Cabart, Mylène Anonnay, Paul Sargos, Nicolas Sevenet

J Hematol Oncol· March 2021

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Nicolas Sevenet

Nucleic Acids Res· February 2020

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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Nicolas Sevenet

BMC Genomics· January 2020

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Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.
Miller Huang, Jignesh Tailor, Qiqi Zhen, Aaron H Gillmor, Matthew L Miller, Nicolas Sevenet

Cell Stem Cell· September 2019

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Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Raphaël Leman, Pascaline Gaildrat, Gérald L Gac, Chandran Ka, Yann Fichou, Nicolas Sevenet

Nucleic Acids Res· November 2018

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Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity.
Adeline Vulin, Melissa Sedkaoui, Sandra Moratille, Nicolas Sevenet, Pascal Soularue

Int J Radiat Oncol Biol Phys· October 2018

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Nicolas Sevenet

Nucleic Acids Res· September 2018

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Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Léa Guerrini-Rousseau, Christelle Dufour, Pascale Varlet, Julien Masliah-Planchon, Franck Bourdeaut, Nicolas Sevenet

Neuro Oncol· July 2018

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Contribution of de novo and mosaic mutations to Li-Fraumeni syndrome.
Mariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, Pierre Fermey, Gwendoline Lienard

J Med Genet· March 2018

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Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.
Virginie Bubien, Françoise Bonnet, Jennifer Dupiot-Chiron, Emmanuelle Barouk-Simonet, Natalie Jones, Nicolas Sevenet

Genes Chromosomes Cancer· November 2017

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Expression of Gastrin-Releasing Peptide Receptor in Breast Cancer and Its Association with Pathologic, Biologic, and Clinical Parameters: A Study of 1,432 Primary Tumors.
Clément Morgat, Gaétan MacGrogan, Véronique Brouste, Valérie Vélasco, Nicolas Sévenet

J Nucl Med· September 2017

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Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.
Louise Crivelli, Virginie Bubien, Natalie Jones, Jennifer Chiron, Françoise Bonnet, Nicolas Sevenet

Eur J Hum Genet· September 2017

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The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
Marie Eliade, Jeremy Skrzypski, Amandine Baurand, Caroline Jacquot, Geoffrey Bertolone, Nicolas Sevenet

Oncotarget· January 2017

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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Nicolas Sevenet

Breast Cancer Res Treat· January 2017

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BRCA Share: A Collection of Clinical BRCA Gene Variants.
Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux

Hum Mutat· December 2016

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